Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.
D002648:Child; D002851:Chromatography, High Pressure Liquid; D002855:Chromatography, Thin Layer; D004912:Erythrocytes / Q000201:enzymology; D005243:Feces / Q000737:chemistry; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood / Q000235:genetics*; D008297:Male; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000097:blood / Q000201:enzymology / Q000235:genetics* / Q000652:urine*; D011166:Porphyrins / Q000032:analysis / Q000378:metabolism / Q000652:urine*; D011498:Protein Precursors / Q000378:metabolism / Q000652:urine*; D012720:Severity of Illness Index
D011166:Porphyrins; D011498:Protein Precursors; D011163:Hydroxymethylbilane Synthase